These are abstracted medical case vignettes (Pathology)
Patient has multiple fractures, anemia, cranial nerve deficits → in which of the following cell types is there a defect? → osteoclasts (e.g., osteopetrosis).
35-year-old man has high blood pressure in arms and low pressure in legs →what is the diagnosis? →coarctation of the aorta.
Woman presents with diffuse goiter and hyperthyroidism → what are the expected values of TSH and thyroid hormones? → low TSH and high thyroid hormones.
Patient exhibits an extended expiratory phase → what is the disease process? → obstructive lung disease.
Woman presents with headache, visual disturbance, galactorrhea, and amenorrhea → what is the diagnosis? →prolactinoma.
Baby has foul-smelling stool and recurrent pulmonary infections → what is the diagnosis, and what test is used? → cystic fibrosis, chloride sweat test.
Obese woman presents with hirsutism and increased levels of serum testosterone → what is the diagnosis? → polycystic ovarian syndrome.
Man presents with extensive destruction of knees, subcutaneous nodules, and exquisite pain the metatarsophalangeal joint → biopsy shows needle-like crystals → what is the diagnosis? → gouty arthritis.
48-year-old female with progressive lethargy and cold intolerance → what is the diagnosis? →hypothyroidism.
Patient with elevated serum cortisol levels undergoes dexamethasone suppression test. One milligram of dexamethasone does not decrease cortisol levels; 8 mg does → what is the diagnosis?→ pituitary tumor.
During a game, a young basketball player collapses and dies immediately →what type of cardiac disease? → hypertrophic cardiomyopathy.
Child has been anemic since birth. Splenectomy would result in increased hematocrit in what disease? →spherocytosis.
43-year-old man experiences dizziness and tinnitus. CT shows enlarged internal acoustic meatus→ what is the diagnosis? → schwannoma.
Child exhibits weakness and enlarged calves → what is the disease, and how is it inherited? →Duchenne’s muscular dystrophy, X-linked recessive.
25-year-old female presents with sudden uniocular vision loss and slightly slurred speech. She has a history of weakness and paresthesias that have resolved → what is the diagnosis? → MS.
Teenager presents with nephritic syndrome and hearing loss → what is his disease? → Alport’s syndrome.
Tall, thin male teenager has abrupt-onset dyspnea and left-sided chest pain. There is hyperresonant percussion on the affected side, and breath sounds are diminished. → what is the diagnosis? → pneumothorax.
Young man is concerned about his wife’s inability to conceive and her recurrent URIs. She has dextrocardia → which of her proteins is defective? → dynein (Kartagener’s).
55-year-old man who is a smoker and a heavy drinker presents with a new cough and flu-like symptoms →Gram stain shows no organisms; silver stain of sputum shows gram-negative rods →what is the diagnosis? →Legionella.
Patient has a stroke after incurring multiple long bone fractures in MVA trauma → what caused the infarct? → fat emboli.
25-year-old woman presents with a low-grade fever and a rash across her nose that gets worse when she is out in the sun → you are concerned about what disease? → SLE.
50-year-old man complains of diarrhea; on physical exam his face seems plethoric and a heart murmur is detected → what is the diagnosis? → carcinoid syndrome.
Elderly woman presents with a headache and jaw pain → labs show elevated ESR → what is the diagnosis? → temporal arteritis.
Pregnant woman at 16 weeks of gestation presents with an atypically large abdomen → what abnormality might be seen on blood test, and what is the disorder? → high hCG; hydatidiform mole.
80-year-old man presents with a systolic crescendo-decrescendo murmur → what is the most likely cause? → aortic stenosis.
Woman of short stature presents with shortened 4th and 5th metacarpals → what endocrine disorder comes to mind? → Albright’s hereditary osteodystrophy, or pseudohypoparathyroidism.
After a stressful life event, 30-year-old man has diarrhea and blood per rectum; intestinal biopsy shows transmural inflammation → what is the diagnosis? → Crohn’s.
Young man presents with mental deterioration and tremors. He has brown pigmentation in a ring around the periphery of his cornea and altered LFTs →what treatment should he receive? →penicillamine for Wilson’s disease.
Patient presents with signs of vitamin B12 deficiency → why not give folate? → masks signs of neural damage.
10-year-old child “spaces out” in class (e.g., stops talking midsentence and then continues as if nothing had happened). During spells, there is slight quivering of lips →what is the diagnosis? → absence seizure.
Source: FA
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